Overview
Progressive myoclonic epilepsy type 8 (PME8) is a rare inherited brain disorder caused by changes in the CERS1 gene. This gene gives instructions for making an enzyme called ceramide synthase 1, which is important for the health of nerve cells in the brain and spinal cord. When this enzyme does not work properly, certain fatty substances build up in nerve cells, causing them to break down over time. The main features of PME8 include myoclonus (sudden, brief muscle jerks), seizures, and problems with movement and coordination called ataxia. Over time, people with this condition may also develop difficulty with balance, walking, and speech. The disease is 'progressive,' meaning symptoms tend to worsen gradually over the years. There is currently no cure for PME8. Treatment focuses on managing seizures and muscle jerks using anti-seizure medications, along with physical and occupational therapy to help maintain function and quality of life. Because this is an extremely rare condition, care is best managed by specialists experienced in rare epilepsy syndromes. Early diagnosis and a personalized care plan can make a meaningful difference in day-to-day life.
Also known as:
Key symptoms:
Sudden, brief muscle jerks (myoclonus)Seizures of various typesProblems with balance and coordination (ataxia)Difficulty walking steadilySlurred or slow speechTremor (shaking) of the hands or limbsGradual decline in motor skills over timeSensitivity to light or touch that can trigger muscle jerksFatigue and reduced staminaCognitive difficulties in some individuals
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Progressive myoclonic epilepsy type 8.
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Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy type 8.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Progressive myoclonic epilepsy type 8.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which anti-seizure medications are safest for my type of epilepsy, and which ones should I avoid?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,Should other family members be tested for the CERS1 gene mutation?,Are there any clinical trials or research studies I might be eligible for?,What therapies (physical, occupational, speech) do you recommend, and how often should I attend?,What should I do if I have a seizure that lasts more than 5 minutes?,Are there any dietary changes or lifestyle modifications that might help manage my symptoms?
Common questions about Progressive myoclonic epilepsy type 8
What is Progressive myoclonic epilepsy type 8?
Progressive myoclonic epilepsy type 8 (PME8) is a rare inherited brain disorder caused by changes in the CERS1 gene. This gene gives instructions for making an enzyme called ceramide synthase 1, which is important for the health of nerve cells in the brain and spinal cord. When this enzyme does not work properly, certain fatty substances build up in nerve cells, causing them to break down over time. The main features of PME8 include myoclonus (sudden, brief muscle jerks), seizures, and problems with movement and coordination called ataxia. Over time, people with this condition may also develo
How is Progressive myoclonic epilepsy type 8 inherited?
Progressive myoclonic epilepsy type 8 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive myoclonic epilepsy type 8 typically begin?
Typical onset of Progressive myoclonic epilepsy type 8 is juvenile. Age of onset can vary across affected individuals.